Home > D. Systemic pathology > Genetic and developmental anomalies > Ivemark syndrome

Ivemark syndrome

MIM.208530

Thursday 13 May 2004

NB: Ivemark recognized the absence of L–R asymmetry as a pathological criterium and asplenia with isomerism was called Ivemark syndrome. Later asplenia/polysplenia syndrome appeared as a descriptive term. However it has been shown that isomerism of the atrial appendages is a much more constant feature than splenic anomalies. Ivemark and asplenia/polysplenia syndrome do not constitute distinct etiological entities and these terms should be avoided.

Autosomal recessive, with most cases sporadic (male preponderance).

NB: Do not confuse with the hepato-reno-pancreatic dysplasia syndrome (or Ivemark II syndrome) also decribed by Ivemark and probably cooresponding to autosomal recessive polycystic kidney disease (ARPKD) (See hepato-reno-pancreatic dysplastic syndromes).

Synopsis

- cardiac isomerisms

  • right cardiac isomerism (with asplenia)
  • left cardiac isomerism (with polysplenia)

- splenic anomalies

  • polysplenia
  • spleen hypoplasia or splenic aplasia (asplenia)
    • systemic sepsis (septicemia)

- visceral heterotaxy (situs inversus viscerum or visceral isomerism)

  • medial liver
  • common mesentery

- abnormal pulmonary lobation

  • bilateral trilobar lung (right pulmonary isomerism)

Associations

- cardiovascular malformations

  • complex cardiac malformations
  • atrial septal defect
  • pulmonic stenosis
  • endocardial cushion defect
  • ventricular septal defect
  • atrioventricular canal

- Heinz bodies and Howell-Jolly bodies in the peripheral blood
- corpus callosum agenesis
- caudal deficiency

See also

- heterotaxy (situs anomalies, laterality disorders)

  • situs ambiguus
  • situs inversus totalis

References

- Peeters H, Devriendt K. Human laterality disorders. Eur J Med Genet. 2006 Sep-Oct;49(5):349-62. Epub 2006 Jan 3. PMID: #16461029#